Variant #0000408679 (NC_000009.11:g.101599250G>A, GALNT12(NM_024642.4):c.1036-4G>A)

Individual ID 00183593
Chromosome 9
Allele Paternal (inferred)
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.101599250G>A
DNA change (hg38) g.98836968G>A
Published as -
ISCN -
DB-ID GALNT12_000011
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 1/206
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Laura Valle
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GALNT12 NM_024642.4 -?/. 5i c.1036-4G>A r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000184561 DNA SEQ - - GALNT12 1 Laura Valle